PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption
Decker, Eva, Stellzig-Eisenhauer, Angelika, Fiebig, Britta S., Rau, Christiane, Kress, Wolfram, Saar, Kathrin, Rüschendorf, Franz, Hubner, Norbert, Grimm, Tiemo, Weber, Bernhard H.F.
Published in American journal of human genetics (01.12.2008)
Published in American journal of human genetics (01.12.2008)
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Journal Article
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene
Fritsche, Lars G, Fleckenstein, Monika, Fiebig, Britta S, Schmitz-Valckenberg, Steffen, Bindewald-Wittich, Almut, Keilhauer, Claudia N, Renner, Agnes B, Mackensen, Friederike, Mößner, Andreas, Pauleikhoff, Daniel, Adrion, Christine, Mansmann, Ulrich, Scholl, Hendrik P N, Holz, Frank G, Weber, Bernhard H F
Published in Investigative ophthalmology & visual science (30.04.2012)
Published in Investigative ophthalmology & visual science (30.04.2012)
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Journal Article
Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause
Guder, Philipp, Löbel, Ulrike, Fiebig, Britta, Oppermann, Ilena, Berger, Angelika, Bley, Annette
Published in Brain disorders (01.06.2021)
Published in Brain disorders (01.06.2021)
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Journal Article
Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders
Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin
Published in American journal of human genetics (01.02.2008)
Published in American journal of human genetics (01.02.2008)
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Journal Article
Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations
Renner, Agnes B, Fiebig, Britta S, Weber, Bernhard H.F, Wissinger, Bernd, Andreasson, Sten, Gal, Andreas, Cropp, Elke, Kohl, Susanne, Kellner, Ulrich
Published in American journal of ophthalmology (01.03.2009)
Published in American journal of ophthalmology (01.03.2009)
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Journal Article
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation
Renner, Agnes B., Walter, Andreas, Fiebig, Britta S., Jägle, Herbert
Published in Documenta ophthalmologica (01.08.2012)
Published in Documenta ophthalmologica (01.08.2012)
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Journal Article
Anti-Fas/CD95 and tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) differentially regulate apoptosis in normal and neoplastic human basophils
Förster, Anja, Falcone, Franco H., Gibbs, Bernhard F., Preussner, Liane M., Fiebig, Britta S., Altunok, Hülya, Seeger, Jens M., Cerny-Reiterer, Sabine, Rabenhorst, Anja, Papenfuss, Kerstin, Valent, Peter, Kashkar, Hamid, Hartmann, Karin
Published in Leukemia & lymphoma (01.04.2013)
Published in Leukemia & lymphoma (01.04.2013)
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Journal Article
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation
Bygum, Anette, Fagerberg, Christina R, Clemmensen, Ole J, Fiebig, Britta, Hafner, Christian
Published in BMC medical genetics (05.06.2011)
Published in BMC medical genetics (05.06.2011)
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Journal Article
Primary Failure of Eruption (PFE) – Clinical and Molecular Genetics Analysis
Stellzig-Eisenhauer, Angelika, Decker, Eva, Meyer-Marcotty, Philipp, Rau, Christiane, Fiebig, Britta S., Kress, Wolfram, Saar, Kathrin, Rüschendorf, Franz, Hubner, Norbert, Grimm, Tiemo, Witt, Emil, Weber, Bernhard H. F.
Published in Journal of orofacial orthopedics (2010)
Published in Journal of orofacial orthopedics (2010)
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Journal Article
Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation
Renner, Agnes B, Fiebig, Britta S, Cropp, Elke, Weber, Bernhard H F, Kellner, Ulrich
Published in Archives of ophthalmology (1960) (01.07.2009)
Published in Archives of ophthalmology (1960) (01.07.2009)
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Journal Article
Lipofuscin- and Melanin-related Fundus Autofluorescence in Patients with ABCA4-associated Retinal Dystrophies
Kellner, Simone, Kellner, Ulrich, Weber, Bernhard H.F, Fiebig, Britta, Weinitz, Silke, Ruether, Klaus
Published in American journal of ophthalmology (01.05.2009)
Published in American journal of ophthalmology (01.05.2009)
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Journal Article
Detection of the germline KIT S476I mutation in a kindred with familial mastocytosis associated with gastrointestinal stromal tumors
Peters, Franziska, Fiebig, Britta, Lundberg, Pontus, Jaspers, Natalie-Isabel, Holzapfel, Bianca, Ghadimi, Markus P H, Drebber, Uta, Tuchscherer, Armin, Ullrich, Roland, Hartmann, Karin, Tantcheva-Poór, Iliana
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.05.2021)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.05.2021)
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Journal Article
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1
Kellner, Simone, Stöhr, Heidi, Fiebig, Britta, Weinitz, Silke, Farmand, Ghazaleh, Kellner, Ulrich, Weber, Bernhard H F
Published in Ophthalmic genetics (01.06.2016)
Published in Ophthalmic genetics (01.06.2016)
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Journal Article
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation
Bygum, Anette, Fagerberg, Christina R, Clemmensen, Ole J, Fiebig, Britta, Hafner, Christian
Published in BMC medical genetics (05.06.2011)
Published in BMC medical genetics (05.06.2011)
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Journal Article
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT
Renner, Agnes B., Kellner, Ulrich, Fiebig, Britta, Cropp, Elke, Foerster, Michael H., Weber, Bernhard H. F.
Published in Documenta ophthalmologica (01.03.2008)
Published in Documenta ophthalmologica (01.03.2008)
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Journal Article
Primary failure of eruption (PFE). Clinical and molecular genetics analysis
Stellzig-Eisenhauer, Angelika, Decker, Eva, Meyer-Marcotty, Philipp, Rau, Christiane, Fiebig, Britta S, Kress, Wolfram, Saar, Kathrin, Rüschendorf, Franz, Hubner, Norbert, Grimm, Tiemo, Witt, Emil, Weber, Bernhard H F
Published in Orthodontie française (01.09.2013)
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Published in Orthodontie française (01.09.2013)
Journal Article
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT: Retinal Imaging and Electrophysiology in the Assessment of Retinal Diseases
RENNER, Agnes B, KELLNER, Ulrich, FIEBIG, Britta, CROPP, Elke, FOERSTER, Michael H, WEBER, Bernhard H. F
Published in Documenta ophthalmologica (2008)
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Published in Documenta ophthalmologica (2008)
Journal Article
Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders
Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G, Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin
Published in American journal of human genetics (08.02.2008)
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Published in American journal of human genetics (08.02.2008)
Journal Article